Publications

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Journal Article
Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, Tian X, Cohen M, Yi V, Kovar CL, Gingras M-C, Korchina V, Howard C, Riconda DL, Pereira S, Smith HS, Huda ZA, Buentello A, Marino PR, Leiber L, Balasubramanyam A, Amos CI, Civitello AB, Chelu MG, Maag R, McGuire AL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 ;23(12):2404-2414.
Bressler J, Mosley TH, Penman A, Gottesman RF, Windham BGwen, Knopman DS, Wruck LM, Boerwinkle E. Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. Am J Med Genet B Neuropsychiatr Genet. 2017 ;174(3):269-282.
Bressler J, Folsom AR, Couper DJ, Volcik KA, Boerwinkle E. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. Am J Epidemiol. 2010 ;171(1):14-23.
Guo D-chuan, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR, Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 ;99(3):762-9.
Li C, Grove ML, Yu B, Jones BC, Morrison A, Boerwinkle E, Liu X. Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population. Hum Genet. 2018 ;137(1):85-94.
Seidelmann SB, Feofanova E, Yu B, Franceschini N, Claggett B, Kuokkanen M, Puolijoki H, Ebeling T, Perola M, Salomaa V, Shah A, Coresh J, Selvin E, MacRae CA, Cheng S, Boerwinkle E, Solomon SD. Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk. J Am Coll Cardiol. 2018 ;72(15):1763-1773.
McDonough CW, Magvanjav O, Sá ACC, Rouby NMEl, Dave C, Deitchman AN, Kawaguchi-Suzuki M, Mei W, Shen Y, Singh RShankar Pr, Solayman M, Bailey KR, Boerwinkle E, Chapman AB, Gums JG, Webb A, Scherer SE, Sadee W, Turner ST, Cooper-Dehoff RM, Gong Y, Johnson JA. Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). Circ Genom Precis Med. 2018 ;11(4):e001854.
Schunk SJ, Kleber ME, Marz W, Pang S, Zewinger S, Triem S, Ege P, Reichert MC, Krawczyk M, Weber SN, Jaumann I, Schmit D, Sarakpi T, Wagenpfeil S, Kramann R, Boerwinkle E, Ballantyne CM, Grove ML, Tragante V, Pilbrow AP, A Richards M, Cameron VA, Doughty RN, Dube M-P, Tardif J-C, Feroz-Zada Y, Sun M, Liu C, Ko Y-A, Quyyumi AA, Hartiala JA, Tang WHWilson, Hazen SL, Allayee H, McDonough CW, Gong Y, Cooper-Dehoff RM, Johnson JA, Scholz M, Teren A, Burkhardt R, Martinsson A, J Smith G, Wallentin L, James SK, Eriksson N, White H, Held C, Waterworth D, Trompet S, J Jukema W, Ford I, Stott DJ, Sattar N, Cresci S, Spertus JA, Campbell H, Tierling S, Walter J, Ampofo E, Niemeyer BA, Lipp P, Schunkert H, Böhm M, Koenig W, Fliser D, Laufs U, Speer T. Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality. Eur Heart J. 2021 ;42(18):1742-1756.
Escott-Price V, Bellenguez C, San Wang L-, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert J-C, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, M Ikram A, Zelenika D, Vardarajan BN, Kamatani Y, Lin C-F, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, Johnson AD, Ruiz A, Bihoreau M-T, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, M Kamboh I, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FSanchez, Fox NC, Hardy J, Naranjo MCandida De, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RFAG, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JSK, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues J-F, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Akdemir ZHCoban, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, V Sutton R, Lupski JR, Boerwinkle E, Gibbs RA. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, van der Most PJ, Tanaka T, Naderi E, Rose LM, Wu Y, Karlsson R, Barbalic M, Lin H, Pool R, Zhu G, Macé A, Sidore C, Trompet S, Mangino M, Sabater-Lleal M, Kemp JP, Abbasi A, Kacprowski T, Verweij N, Smith AV, Huang T, Marzi C, Feitosa MF, Lohman KK, Kleber ME, Milaneschi Y, Mueller C, Huq M, Vlachopoulou E, Lyytikäinen L-P, Oldmeadow C, Deelen J, Perola M, Zhao JHua, Feenstra B, Amini M, Lahti J, Schraut KE, Fornage M, Suktitipat B, Chen W-M, Li X, Nutile T, Malerba G, Luan J'an, Bak T, Schork N, M FDel Greco, Thiering E, Mahajan A, Marioni RE, Mihailov E, Eriksson J, Ozel ABilge, Zhang W, Nethander M, Cheng Y-C, Aslibekyan S, Ang W, Gandin I, Yengo L, Portas L, Kooperberg C, Hofer E, Rajan KB, Schurmann C, Hollander Wden, Ahluwalia TS, Zhao J, Draisma HHM, Ford I, Timpson N, Teumer A, Huang H, Wahl S, Liu Y, Huang J, Uh H-W, Geller F, Joshi PK, Yanek LR, Trabetti E, Lehne B, Vozzi D, Verbanck M, Biino G, Saba Y, Meulenbelt I, O'Connell JR, Laakso M, Giulianini F, Magnusson PKE, Ballantyne CM, Hottenga JJan, Montgomery GW, Rivadineira F, Rueedi R, Steri M, Herzig K-H, Stott DJ, Menni C, Frånberg M, St Pourcain B, Felix SB, Pers TH, Bakker SJL, Kraft P, Peters A, Vaidya D, Delgado G, Smit JH, Großmann V, Sinisalo J, Seppälä I, Williams SR, Holliday EG, Moed M, Langenberg C, Räikkönen K, Ding J, Campbell H, Sale MM, Chen Y-DI, James AL, Ruggiero D, Soranzo N, Hartman CA, Smith EN, Berenson GS, Fuchsberger C, Hernandez D, Tiesler CMT, Giedraitis V, Liewald D, Fischer K, Mellström D, Larsson A, Wang Y, Scott WR, Lorentzon M, Beilby J, Ryan KA, Pennell CE, Vuckovic D, Balkau B, Concas MPina, Schmidt R, de Leon CFMendes, Bottinger EP, Kloppenburg M, Paternoster L, Boehnke M, Musk AW, Willemsen G, Evans DM, Madden PAF, Kähönen M, Kutalik Z, Zoledziewska M, Karhunen V, Kritchevsky SB, Sattar N, Lachance G, Clarke R, Harris TB, Raitakari OT, Attia JR, van Heemst D, Kajantie E, Sorice R, Gambaro G, Scott RA, Hicks AA, Ferrucci L, Standl M, Lindgren CM, Starr JM, Karlsson M, Lind L, Li JZ, Chambers JC, Mori TA, de Geus EJCN, Heath AC, Martin NG, Auvinen J, Buckley BM, de Craen AJM, Waldenberger M, Strauch K, Meitinger T, Scott RJ, McEvoy M, Beekman M, Bombieri C, Ridker PM, Mohlke KL, Pedersen NL, Morrison AC, Boomsma DI, Whitfield JB, Strachan DP, Hofman A, Vollenweider P, Cucca F, Jarvelin M-R, J Jukema W, Spector TD, Hamsten A, Zeller T, Uitterlinden AG, Nauck M, Gudnason V, Qi L, Grallert H, Borecki IB, Rotter JI, Marz W, Wild PS, Lokki M-L, Boyle M, Salomaa V, Melbye M, Eriksson JG, Wilson JF, Penninx BWJH, Becker DM, Worrall BB, Gibson G, Krauss RM, Ciullo M, Zaza G, Wareham NJ, Oldehinkel AJ, Palmer LJ, Murray SS, Pramstaller PP, Bandinelli S, Heinrich J, Ingelsson E, Deary IJ, Mägi R, Vandenput L, van der Harst P, Desch KC, Kooner JS, Ohlsson C, Hayward C, Lehtimäki T, Shuldiner AR, Arnett DK, Beilin LJ, Robino A, Froguel P, Pirastu M, Jess T, Koenig W, Loos RJF, Evans DA, Schmidt H, Smith GDavey, P Slagboom E, Eiriksdottir G, Morris AP, Psaty BM, Tracy RP, Nolte IM, Boerwinkle E, Visvikis-Siest S, Reiner AP, Gross M, Bis JC, Franke L, Franco OH, Benjamin EJ, Chasman DI, Dupuis J, Snieder H, Dehghan A, Alizadeh BZ. Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. Am J Hum Genet. 2018 ;103(5):691-706.
Morrison AC, Cooper R, Hunt S, Lewis CE, Luke A, Mosley TH, Boerwinkle E. Genome scan for hypertension in nonobese African Americans: the National Heart, Lung, and Blood Institute Family Blood Pressure Program. Am J Hypertens. 2004 ;17(9):834-8.
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, C Y Mak A, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 ;141(1):127-146.
Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums JG, Bailey K, Gong Y, Turner ST, Johnson JA, Boerwinkle E. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Pharmacogenomics J. 2014 ;14(1):35-40.
Barbalic M, Reiner AP, Wu C, Hixson JE, Franceschini N, Eaton CB, Heiss G, Couper D, Mosley T, Boerwinkle E. Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report. PLoS Genet. 2011 ;7(8):e1002199.
Fornage M, Debette S, Bis JC, Schmidt H, M Ikram A, Dufouil C, Sigurdsson S, Lumley T, DeStefano AL, Fazekas F, Vrooman HA, Shibata DK, Maillard P, Zijdenbos A, Smith AV, Gudnason H, de Boer R, Cushman M, Mazoyer B, Heiss G, Vernooij MW, Enzinger C, Glazer NL, Beiser A, Knopman DS, Cavalieri M, Niessen WJ, Harris TB, Petrovic K, Lopez OL, Au R, Lambert J-C, Hofman A, Gottesman RF, Garcia M, Heckbert SR, Atwood LD, Catellier DJ, Uitterlinden AG, Yang Q, Smith NL, Aspelund T, Romero JR, Rice K, Taylor KD, Nalls MA, Rotter JI, Sharrett R, van Duijn CM, Amouyel P, Wolf PA, Gudnason V, van der Lugt A, Boerwinkle E, Psaty BM, Seshadri S, Tzourio C, Breteler MMB, Mosley TH, Schmidt R, Longstreth WT, DeCarli C, Launer LJ. Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol. 2011 ;69(6):928-39.
Meyer TE, Verwoert GC, Hwang S-J, Glazer NL, Smith AV, van Rooij FJA, Ehret GB, Boerwinkle E, Felix JF, Leak TS, Harris TB, Yang Q, Dehghan A, Aspelund T, Katz R, Homuth G, Kocher T, Rettig R, Ried JS, Gieger C, Prucha H, Pfeufer A, Meitinger T, Coresh J, Hofman A, Sarnak MJ, Chen Y-DIda, Uitterlinden AG, Chakravarti A, Psaty BM, van Duijn CM, Kao WHLinda, Witteman JCM, Gudnason V, Siscovick DS, Fox CS, Köttgen A. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet. 2010 ;6(8).
Tang W, Teichert M, Chasman DI, Heit JA, Morange P-E, Li G, Pankratz N, Leebeek FW, Paré G, de Andrade M, Tzourio C, Psaty BM, Basu S, Ruiter R, Rose L, Armasu SM, Lumley T, Heckbert SR, Uitterlinden AG, Lathrop M, Rice KM, Cushman M, Hofman A, Lambert J-C, Glazer NL, Pankow JS, Witteman JC, Amouyel P, Bis JC, Bovill EG, Kong X, Tracy RP, Boerwinkle E, Rotter JI, Trégouët D-A, Loth DW, Stricker BHCh, Ridker PM, Folsom AR, Smith NL. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013 ;37(5):512-521.
de Vries PS, Sabater-Lleal M, Huffman JE, Marten J, Song C, Pankratz N, Bartz TM, de Haan HG, Delgado GE, Eicher JD, Martinez-Perez A, Ward-Caviness CK, Brody JA, Chen M-H, de Maat MPM, Frånberg M, Gill D, Kleber ME, Rivadeneira F, Soria JManuel, Tang W, Tofler GH, Uitterlinden AG, Vlieg Avan Hylcka, Seshadri S, Boerwinkle E, Davies NM, Giese A-K, M Ikram K, Kittner SJ, McKnight B, Psaty BM, Reiner AP, Sargurupremraj M, Taylor KD, Fornage M, Hamsten A, Marz W, Rosendaal FR, Souto JCarlos, Dehghan A, Johnson AD, Morrison AC, O'Donnell CJ, Smith NL. A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. Blood. 2019 ;133(9):967-977.
Li M, Maruthur NM, Loomis SJ, Pietzner M, North KE, Mei H, Morrison AC, Friedrich N, Pankow JS, Nauck M, Boerwinkle E, Teumer A, Selvin E, Köttgen A. Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. Sci Rep. 2017 ;7(1):2812.
Yu B, Zheng Y, Alexander D, Manolio TA, Alonso A, Nettleton JA, Boerwinkle E. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. Genet Epidemiol. 2013 ;37(8):840-5.
Ahluwalia TS, Prins BP, Abdollahi M, Armstrong NJ, Aslibekyan S, Bain L, Jefferis B, Baumert J, Beekman M, Ben-Shlomo Y, Bis JC, Mitchell BD, de Geus E, Delgado GE, Marek D, Eriksson J, Kajantie E, Kanoni S, Kemp JP, Lu C, Marioni RE, McLachlan S, Milaneschi Y, Nolte IM, Petrelis AM, Porcu E, Sabater-Lleal M, Naderi E, Seppälä I, Shah T, Singhal G, Standl M, Teumer A, Thalamuthu A, Thiering E, Trompet S, Ballantyne CM, Benjamin EJ, Casas JP, Toben C, Dedoussis G, Deelen J, Durda P, Engmann J, Feitosa MF, Grallert H, Hammarstedt A, Harris SE, Homuth G, Hottenga J-J, Jalkanen S, Jamshidi Y, Jawahar MC, Jess T, Kivimaki M, Kleber ME, Lahti J, Liu Y, Marques-Vidal P, Mellström D, Mooijaart SP, Müller-Nurasyid M, Penninx B, Revez JA, Rossing P, Räikkönen K, Sattar N, Scharnagl H, Sennblad B, Silveira A, St Pourcain B, Timpson NJ, Trollor J, van Dongen J, van Heemst D, Visvikis-Siest S, Vollenweider P, Völker U, Waldenberger M, Willemsen G, Zabaneh D, Morris RW, Arnett DK, Baune BT, Boomsma DI, Chang Y-PC, Deary IJ, Deloukas P, Eriksson JG, Evans DM, Ferreira MA, Gaunt T, Gudnason V, Hamsten A, Heinrich J, Hingorani A, Humphries SE, J Jukema W, Koenig W, Kumari M, Kutalik Z, Lawlor DA, Lehtimäki T, Marz W, Mather KA, Naitza S, Nauck M, Ohlsson C, Price JF, Raitakari O, Rice K, Sachdev PS, Slagboom E, Sørensen TIA, Spector T, Stacey D, Stathopoulou MG, Tanaka T, S Wannamethee G, Whincup P, Rotter JI, Dehghan A, Boerwinkle E, Psaty BM, Snieder H, Alizadeh BZ. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen M-H, Vaidya D, Soria JManuel, Suchon P, Vlieg Avan Hylcka, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange P-E, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A, Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JCarlos, Becker LC, Jenny NS, Marz W, J Jukema W, Dehghan A, Trégouët D-A, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019 ;139(5):620-635.
Dmitrieva RI, Hinojos CA, Grove ML, Bell RJ, Boerwinkle E, Fornage M, Doris PA. Genome-wide identification of allelic expression in hypertensive rats. Circ Cardiovasc Genet. 2009 ;2(2):106-15.
D Hallman M, Boerwinkle E, Gonzalez VH, Klein BEK, Klein R, Hanis CL. A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes. 2007 ;56(4):1167-73.